Overview

Researchers have found some genes associated with the development of systemic sclerosis (scleroderma).

There are several types of scleroderma that are known to run in families, such as Familial CRST w/ Sicca, and Familial Progressive Systemic Sclerosis. Genes that predispose to scleroderma were found by studying the Choctaw Indian Tribe of Oklahoma, where those with scleroderma all shared a common ancestor.

This does not mean, however, that scleroderma is a "genetic illness" per se. They estimate that it is genetic in only 2% of scleroderma patients. However, there are some genes that set the stage for the development of autoimmune disease in general, and scleroderma in particular.

Should a parent with scleroderma worry about their child acquiring scleroderma? No, not unless there is a known pattern of scleroderma already established in the family.

However, that said, there is about a 30% chance that children from parents with any autoimmune disease might eventually develop any autoimmune disease or autoantibodies, or, more commonly, just a symptom or two of any autoimmune disease — due to general inherited and/or lifestyle susceptibility. (Also see What is Scleroderma?, Autoimmune Diseases, and Pregnancy and Scleroderma)

Birth Order

Parental Influence on Systemic Sclerosis (SSc). Birth order and maternal/paternal age at conception do not significantly affect SSc development even though heritable risk of SSc is observed. PubMed, Arthritis Care Res (Hoboken), 2014 Apr 22.

Systemic sclerosis, birth order and parity. Parity, age at first pregnancy and the gender of the first child are not relevant factors in our understanding of the epidemiology and pathogenesis of SSc. PubMed, Int J Rheum Dis, 2013 Nov 29.

Choctaw Study

It was discovered that systemic scleroderma is sometimes hereditary through genetic research done on the Choctaw Indian Tribe of Oklahoma, where all of the scleroderma patients have one common ancestor. There is also an apparent scleroderma cluster (of unknown cause) in the Kahnawake Indian Tribe of Quebec, Canada.

Familial Progressive Systemic Sclerosis (FPSS)

Familial progressive systemic scleroderma. This isolate is a group of families who have been inbreeding since 1660 and now have the highest gene frequencies for sickle cell anemia and oculocutaneous albinism in the United States. Arch Dermatol 1975 Jan;111(1):81-5 Medline.

Association of TNFSF4 (OX40L) polymorphisms with susceptibility to Systemic Sclerosis. It is increasingly being appreciated that multiple autoimmune diseases share common susceptibility genes. Polymorphisms in the TNFSF4 gene region are associated with susceptibility to SSc and its clinical and autoantibody subsets. TNFSF4 may be another gene that confers risk to multiple autoimmune diseases. Pravitt Gourh Ann Rheum Dis. 23 September 2009.

Scientists Identify New Genetic Region Associated with Scleroderma. New research has identified a new genetic link to systemic sclerosis (Also known as systemic scleroderma) and confirmed three previously discovered links to the disease, which can cause thickening of the skin, narrowing of blood vessels and scarring of internal organs. January 2011. NIAMS.

The Genetics of Scleroderma. Multiple genes have been consistently associated with susceptibility to scleroderma, and interestingly, several of them are involved in immune regulation. Martin J. (PubMed) Curr Rheumatol Rep, 2010 Oct 20.

Human Genome Project Boosts Scleroderma Research. A group at the Centre for Immunology, St Vincent's Hospital Sydney is at the vanguard of this research, employing the latest "Gene array" technology to determine the patterns of gene expression that occur in scleroderma. Scleroderma Association of New South Wales, Inc.

Scleroderma Registries

Scleroderma Family Registries are available in many countries and they are very important for tracking the incidence of scleroderma as well as providing valuable clues for research. If you or a family member has scleroderma, consider registering today! ISN.

The siblings may or may not be twins, but must be of the same gender and be within a 3-year age difference. Biological parents, or, in some cases, children, will also be included in the study.

Families may enroll at the NIH Clinical Center in Bethesda, Maryland, just 9 miles north of Washington, DC or at their local physician's office. Transportation assistance may be available and there is no charge for study-related evaluations and medical tests.

SCLERO.ORG is the world leader for trustworthy research, support, education and awareness for scleroderma and related illnesses, such as pulmonary hypertension. We are a service of the nonprofit International Scleroderma Network (ISN), which is a 501(c)(3) U.S.-based public charitable foundation, established in 2002. Meet Our Team, Volunteer, or Donate.